Full data view for gene SLX4

Information The variants shown are described using the NM_032444.2 transcript reference sequence.

512 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-39C>G r.(=) p.(=) Parent #2 g.3659004G>C - SLX4_000152 - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia - Greek no - 1 Despoina Kalfakakou
./. - c.13G>A r.(?) p.(Val5Met) Parent #2 g.3658953C>T - SLX4_000054 - - - - DNA SEQ-NG-I 1 ALL, GC, SkCa - M Russia Kissamos, Chania Greek no - 4 Despoina Kalfakakou
./. - c.70C>T r.(?) p.(Pro24Ser) Parent #2 g.3658896G>A - SLX4_000110 - - - - DNA SEQ-NG-I 1 BrCa - F Drama Vonitsa Greek no - 1 Despoina Kalfakakou
./. - c.71C>T r.(?) p.(Pro24Leu) Parent #2 g.3658895G>A - SLX4_000087 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Kavala Greek no - 1 Despoina Kalfakakou
./. - c.85C>T r.(?) p.(Arg29Cys) Parent #2 g.3658881G>A - SLX4_000080 - - - - DNA SEQ-NG-I 1 BrCa - F Markopoulo, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.85C>T r.(?) p.(Arg29Cys) Parent #2 g.3658881G>A - SLX4_000080 - - - - DNA SEQ-NG-I 1 TRC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.85C>T r.(?) p.(Arg29Cys) Parent #2 g.3658881G>A - SLX4_000080 - - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.85C>T r.(?) p.(Arg29Cys) Parent #2 g.3658881G>A - SLX4_000080 - - - - DNA SEQ-NG-I 1 OVCA - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.85C>T r.(?) p.(Arg29Cys) Parent #2 g.3658881G>A - SLX4_000080 - - - - DNA SEQ-NG-I 1 OVCA - F Gimno, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.86G>A r.(?) p.(Arg29His) Parent #2 g.3658880C>T - SLX4_000109 - - - - DNA SEQ-NG-I 1 BrCa, CHL - F Athens Alexandria Greek no - 2 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Meganisi, Lefkada - Greek no - 4 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Patra Athens Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Zagorochoria Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Perachora, Loutraki Agioi Theodori, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 2 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 CRC - M Piraeus Orestiada Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa, Pella - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 CRC - F Corfu Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Greece South Africa Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 AppCa - M Chania, Crete Mandra, Attika Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Trikala Central Greece Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Pandrosos, Rodhope Sappes, Rodhope Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Patra Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Istiaia, Evia Tsapournia, Evia Greek no - 4 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Tsapournia, Evia Greek no - 5 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Vertitskos, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Rumelia - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Argolis Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 CAL, GIST - M Parga, Preveza - Greek no - 5 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 - - F Planitero, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 CMM3 - F Athens - Greek no - 2 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 - - F Stavros, Lamia Lamia Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 PrCa - M Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 FANCA - F Al Bara, Syria - Syrian no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 PNCA2 - F Asia Minor Athens Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala Aghia, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Nicolaos Kritsa Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Lidoriki, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Sifnos - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Rethymn Lasithi Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Dafnos, Phocis Dimitra, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Aridaia, Pella & Asia Minor Leptokaria, Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Samos Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi  - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Divri, Sarandë - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Goumenissa Kilkis Lagkadia, Pella Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Domokos - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Kastoria - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.90C>T r.(=) p.(=) Parent #2 g.3658876G>A - SLX4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.100C>T r.(?) p.(Gln34*) Parent #2 g.3658866G>A - SLX4_000079 - - - - DNA SEQ-NG-I 1 BrCa - F Cynuria, Arcadia Chiliomodi, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.111C>A r.(?) p.(Ser37Arg) Parent #2 g.3658855G>T - SLX4_000134 - - - - DNA SEQ-NG-I 1 OVCA - F Pella - Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.3658854G>A - SLX4_000115 - - - - DNA SEQ-NG-I 1 ENC, EnPol, OVCA - F Argolida Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.145G>A r.(?) p.(Glu49Lys) Parent #2 g.3658821C>T - SLX4_000121 - - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M - - Greek no - 3 Despoina Kalfakakou
./. - c.165C>T r.(=) p.(=) Parent #2 g.3658801G>A - SLX4_000112 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.192A>G r.(=) p.(=) Parent #2 g.3658774T>C - SLX4_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Lampiotes, Rethymno - Greek no - 1 Despoina Kalfakakou
./. - c.192A>G r.(=) p.(=) Parent #2 g.3658774T>C - SLX4_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.217G>C r.(?) p.(Glu73Gln) Parent #2 g.3658749C>G - SLX4_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Krapsi, Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.217G>C r.(?) p.(Glu73Gln) Parent #2 g.3658749C>G - SLX4_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Laconia Corfu Greek no - 1 Despoina Kalfakakou
./. - c.244A>G r.(?) p.(Asn82Asp) Parent #2 g.3658722T>C - SLX4_000009 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Patra Athens Greek no - 1 Despoina Kalfakakou
./. - c.261_263del r.(?) p.(Arg87del) Parent #2 g.3658703_3658705del - SLX4_000057 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Trikeri, Volos Volos Greek no - 1 Despoina Kalfakakou
./. - c.261_263del r.(?) p.(Arg87del) Parent #2 g.3658703_3658705del - SLX4_000057 - - - - DNA SEQ-NG-I 1 BrCa, OvTer - F Evros Sesklo, Volos Greek no - 1 Despoina Kalfakakou
./. - c.299C>A r.(?) p.(Thr100Asn) Parent #2 g.3658667G>T - SLX4_000131 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus İstanbul Greek no - 1 Despoina Kalfakakou
./. - c.336G>A r.(=) p.(=) Parent #2 g.3658630C>T - SLX4_000133 rs79126454 - - - DNA SEQ-NG-I 1 OVCA - F Pella - Greek no - 1 Despoina Kalfakakou
./. - c.398C>T r.(?) p.(Pro133Leu) Parent #2 g.3658568G>A - SLX4_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Evia Greek no - 1 Despoina Kalfakakou
./. - c.399G>A r.(=) p.(=) Parent #2 g.3658567C>T - SLX4_000111 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.421G>T r.(?) p.(Gly141Trp) Parent #2 g.3658545C>A - SLX4_000056 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Filiates, Thesprotia Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.421G>T r.(?) p.(Gly141Trp) Parent #2 g.3658545C>A - SLX4_000056 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.465A>G r.(=) p.(=) Parent #2 g.3658501T>C - SLX4_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Austria - Greek no - 1 Despoina Kalfakakou
./. - c.506C>T r.(?) p.(Ser169Leu) Parent #2 g.3658460G>A - SLX4_000023 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
./. - c.506C>T r.(?) p.(Ser169Leu) Parent #2 g.3658460G>A - SLX4_000023 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.506C>T r.(?) p.(Ser169Leu) Parent #2 g.3658460G>A - SLX4_000023 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.506C>T r.(?) p.(Ser169Leu) Parent #2 g.3658460G>A - SLX4_000023 - - - - DNA SEQ-NG-I 1 BrCa, EnPol - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.518C>G r.(?) p.(Ser173Cys) Parent #2 g.3658448G>C - SLX4_000093 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.553G>A r.(?) p.(Asp185Asn) Parent #2 g.3656682C>T - SLX4_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.553G>A r.(?) p.(Asp185Asn) Parent #2 g.3656682C>T - SLX4_000022 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.582A>G r.(=) p.(=) Parent #2 g.3656653T>C - SLX4_000122 - - - - DNA SEQ-NG-I 1 FANCA - F Al Bara, Syria - Syrian no - 1 Despoina Kalfakakou
./. - c.590T>C r.(?) p.(Val197Ala) Parent #2 g.3656645A>G - SLX4_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Sparti - Greek no - 1 Despoina Kalfakakou
./. - c.590T>C r.(?) p.(Val197Ala) Parent #2 g.3656645A>G - SLX4_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.590T>C r.(?) p.(Val197Ala) Parent #2 g.3656645A>G - SLX4_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Katouna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
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